Detection of Beta Thalassemia Trait in Siblings of Beta Thalassemia Major Patients in Karachi: A Step towards Beta Thalassemia Major Free Society

Abstract

Objective:  To detect ?-Thalassemia trait in siblings of ?-Thalassemia major patients in Karachi

Background: Beta thalassemia major (BTM) is diagnosed very early in life and the patient usually has signs of hemolysis as well 7. Beta-thalassemia minor is another form of beta-thalassemia, in which the patient is usually asymptomatic and shows only mild anemia on CBC labs 12. Being more precise, if both partners carry beta thalassemia trait, then there is 25% chance of having homozygous beta thalassemia offspring. Considering this factor, the present study is designed to identify the presence of thalassemia minor in the siblings of Beta-thalassemia major patients.

Materials and Methodology: This cross-sectional study was conducted at Muhammadi Institute of Hematology in Karachi from 2019 to 2021. Blood samples were collected for complete blood count and high-performance liquid chromatography. Data was analyzed using SPSS with comparison of parameters between non-carrier and carrier group done using independent t-test (P<0.05).

Results: From the 400 siblings screened, 168 (42%) were found to be carriers of the beta thalassemia trait. On CBC interpretation, those who were carriers showed a significant reduction in MCV and MCH, where as their RBC count was high and MCHC was normal. The HbA, HbF, and Hb A2 levels were also significantly different between the carrier group and non-carrier group.

Conclusion: Prevalence rate of beta thalassemia was higher in the siblings of beta-thalassemia major patients. Therefore, proper screening, identification, and genetic counseling in this group can be extremely valuable